The Face of Noonan Syndrome: Does Phenotype Predict Genotype
2010
The facial photographs of 81 individuals with
Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorphologists (JA and MZ), each of whom has considerable experience with disorders of the Ras/MAPK pathway. Thirty-two of this cohort have
PTPN11mutations, 21
SOS1mutations, 11 RAF1 mutations, and 17
KRASmutations. The facial appearance of each person was judged to be typical of
Noonan syndromeor atypical. In each gene category both typical and unusual faces were found. We determined that some individuals with mutations in the most commonly affected gene,
PTPN11, which is correlated with the cardinal physical features, may have a quite atypical face. Conversely, some individuals with
KRASmutations, which may be associated with a less characteristic intellectual phenotype and a resemblance to Costello and cardio-facio-cutaneous syndromes, can have a very typical face. Thus, the facial phenotype, alone, is insufficient to predict the genotype, but certain facial features may facilitate an educated guess in some cases.
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